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Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
Bellofatto M, Gentile L, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Grandis M, Previtali SC, Scarlato M, Allegri I, Padua L, Pazzaglia C, Villani F, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Russo M, Mazzeo A, Vita G, Piacentini S, Didato G, Pisciotta C, Pareyson D; Italian C. M. T. Network. Bellofatto M, et al. Among authors: saveri p. J Neurol. 2023 Nov;270(11):5561-5568. doi: 10.1007/s00415-023-11911-y. Epub 2023 Aug 4. J Neurol. 2023. PMID: 37540277 Free PMC article.
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Pareyson D, et al. Among authors: saveri p. Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Neurosci Lett. 2015. PMID: 25847151 Review.
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Piscosquito G, Magri S, Saveri P, Milani M, Ciano C, Farina L, Taroni F, Pareyson D. Piscosquito G, et al. Among authors: saveri p. J Peripher Nerv Syst. 2017 Mar;22(1):47-50. doi: 10.1111/jns.12201. J Peripher Nerv Syst. 2017. PMID: 27982524
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Tomaselli PJ, et al. Among authors: saveri p. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10. Neurology. 2017. PMID: 28283593 Free PMC article.
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D. Cortese A, et al. Among authors: saveri p. Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2. Eur J Neurol. 2018. PMID: 29029362
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. Juneja M, et al. Among authors: saveri p. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15. J Neurol Neurosurg Psychiatry. 2018. PMID: 29449460
41 results